Article

Small-cohort GWAS discovery with AI over massive functional genomics knowledge graph

2024-12-05

Abstract excerpt

Genome-wide association studies (GWASs) have identified tens of thousands of disease associated variants and provided critical insights into developing effective treatments. However, limited sample sizes have hindered the discovery of variants for uncommon and rare diseases. Here, we introduce KGWAS, a novel geometric deep learning method that leverages a massive functional knowledge graph across variants and gene...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 31c48c74-5e0d-5752-9ce2-842c74e53ccd
DOI: 10.1101/2024.12.03.24318375

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Small-cohort GWAS discovery with AI over massive functional genomics knowledge graphDOI 10.1101/2024.12.03.24318375Read

Leveraging molecular-QTL co-association to predict novel disease-associated genetic loci using a graph convolutional neural networkSemantic proximity Read

A global survey of System Biology-based predictions of gene-rare disease associations to enhance new diagnosesSemantic proximity Read

Interpretable deep learning translation of GWAS and multi-omics findings to identify pathobiology and drug repurposing in Alzheimer’s diseaseSemantic proximity Read

A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Semantic proximity Read

Gene and Network Analysis of Common Variants Reveals Novel Associations in Multiple Complex Diseases.Semantic proximity Read

GenoGraph: An Interpretable Graph Contrastive Learning Approach for Identifying Breast Cancer Risk VariantsSemantic proximity Read

DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs.Semantic proximity Read

Disease association with frequented regions of genotype graphsSemantic proximity Read

Recent advances in network-based methods for disease gene prediction.Semantic proximity Read

networkGWAS: a network-based approach to discover genetic associations.Semantic proximity Read

Modeling gene interactions in polygenic prediction via geometric deep learning.Semantic proximity Read

DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphsSemantic proximity Read